Clinical trials: Genetic
Congenital Fibrosis of Extraocular Muscles, Duane Retraction Syndrome
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.
- Conditions
- Congenital Fibrosis of Extraocular Muscles, Duane Retraction Syndrome, Duane Radial Ray Syndrome, Mobius Syndrome
- Trial name
- NCT03059420
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Ornithine Transcarbamylase Deficiency
Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
The purpose of this study is to use various types of MRI and cognitive testing to evaluate changes in the brain and cognitive function that occur in subjects with ornithine transcarbamylase deficiency (OTCD) relative to healthy…
- Trial name
- NCT01569568
- Testing
- MRI scanning, Cognitive testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
Limb Girdle Muscular Dystrophies
Motor Parameters in Patients With Limb Girdle Muscular Dystrophy
The primary objective of the study is to perform 2-year follow up with motor parameters evolution using instrumental assessments in patients with limb girdle muscular dystrophie, and to identify which motor parameters are…
- Trial name
- EIDY (NCT04772027)
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Metabolic Disease, Propionic Acidemia
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases.
- Conditions
- Metabolic Disease, Propionic Acidemia, Organic Acidemia
- Trial name
- NCT02890342
- Where
- 2 sites in United States
- Volunteers
- 1,045 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy
An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China
This is a multi-omics research of Chinese cardiomyopathies patients, aiming to determine genetic risk factor and serial biomarkers of cardiomyopathies in diagnosis and prognosis.
- Conditions
- Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Non-compaction
- Trial name
- AOCC (NCT03076580)
- Where
- 3 sites in China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Beijing Institute of Heart, Lung and Blood Vessel Diseases
Ehlers-Danlos Syndrome (EDS)
Impact of Ehlers-Danlos Syndrome on Gynaecological Health
Dysmenorrhea is a common problem in gynaecology, significantly impacting patients' quality of life. Ehlers-Danlos syndrome (EDS) is associated with joint hypermobility, tissue fragility and chronic pain.
- Trial name
- GYNESED (NCT07151274)
- Where
- France
- Volunteers
- 156 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Alzheimer s Disease, Mild Cognitive Impairment (MCI)
Crownlands Observing Progression With Neurons Study
The CROWN-I Study is an observational study to learn about molecular features of Alzheimer's disease (AD) and mild cognitive impairment (MCI).
- Trial name
- CROWN-I (NCT07611396)
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Crownlands
Duchenne Muscular Dystrophy
Telerehabilitation-based Motor Imagery Training in Children With Duchenne Muscular Dystrophy
When the field of neurorehabilitation is examined, most of the current physiotherapy and rehabilitation approaches are based on real movements to stimulate damaged motor neural connections through neuroplasticity.
- Trial name
- NCT06109103
- Testing
- telerehabilitation-based motor imagery training, telerehabilitation-based physiotheraphy training
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Quality of Life
Effects of Genetic Variation on the Efficacy of Aerobic Exercise
This study investigates whether, after six weeks of exercise, a genetic variant (Val66Met) in the gene that makes a molecule (BDNF) important for brain health and function, influences the beneficial effects of a further session…
- Trial name
- NCT03670186
- Testing
- High-Intensity Interval Training (HIIT)
- Where
- Canada
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- McMaster University
Oral Mucosal Disease
Clinical Research Core Dental Screening Protocol
This study will screen patients for eligibility in studies sponsored by the Craniofacial Genetics Section (HCGS), the Clinical Research Core (CRC), and other branches located within the National Institute of Dental and…
- Trial name
- NCT00090818
- Where
- United States
- Volunteers
- 441 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Hereditary Cancer-Predisposing Syndrome
Inherited Risk Evaluation Tool (InheRET): Identifying Patients at Increased Risk for Hereditary Disease
This study will evaluate the impact InheRET™, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network(NCCN) guideline compliant referrals for cancer genetic…
- Trial name
- NCT04510896
- Testing
- InheRET, Patient Acceptance, Physician Acceptance Survey
- Where
- 4 sites in United States
- Volunteers
- 2,232 people, healthy volunteers welcome
- Sponsor
- InheRET, Inc
Bruxism
mRNA Expression and Genetic Polymorphisms Affecting DRD3 (rs6280) and HTR2A (rs6313) in Bruxism
The goal of this observational study is to learn about the genetic factors influencing bruxism, a condition characterized by teeth grinding, in a group of participants.
- Trial name
- NCT06457646
- Testing
- Genetic polymorphism
- Volunteers
- 169 people, healthy volunteers welcome
- Sponsor
- University of Monastir
Cystic Fibrosis
Safety and Efficacy of Inhaled OligoG CF-5/20 for the Treatment Cystic Fibrosis
Cystic fibrosis (CF) is a disease caused by a mutation in the gene that makes the cystic fibrosis transmembrane regulator protein.
- Trial name
- NCT00970346
- Testing
- OligoG CF-5/20
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- AlgiPharma AS
Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors
Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population.
- Conditions
- Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors, Glucose Metabolism Disorders
- Trial name
- NCT02979106
- Testing
- Test meal
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Infertility, Hereditary Diseases
Embryo Health Study
This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders.
- Trial name
- EHS (NCT04528498)
- Testing
- Preimplantation Genetic Testing
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Genomic Prediction Inc.
Preimplantation Genetic Diagnosis (PGD)
Establishment of Comprehensive Genetic Analysis From a Single Cell
Preimplantation genetic diagnosis (PGD) is the integration of both assisted reproductive technologies and molecular genetic technologies and was shown to improve implantation rate and reduce spontaneous abortions after…
- Trial name
- NCT00173732
- Where
- Taiwan
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Diabetes Mellitus, Sarcoidosis
Salivary Proteins in Disease and Health
This study will examine saliva samples from healthy volunteers and patients with various diseases to learn more about how disease affects the mouth and salivary glands.
- Conditions
- Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome
- Trial name
- NCT00100204
- Where
- United States
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
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